Mutation details:

Protein level identifier (NP_113606):

p.Tyr847Cys

cDNA level identifier (NM_031418):

c.2540A>G

Gene level identifier:

g.458539A>G

Reference, alternative allele:

A, G

Genomic location hg(19)

11:26669367 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 heterozygous (5 in total).